scholarly journals Duplication 6q24: More Than Just Diabetes

2020 ◽  
Vol 4 (5) ◽  
Author(s):  
Rachel H Gore ◽  
Maria Eleni Nikita ◽  
Paula G Newton ◽  
Rebecca G Carter ◽  
Jeanine Reyes-Bautista ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Uniparental Disomy ◽  
Clinical Importance ◽  
Neonatal Diabetes ◽  
Increased Risk ◽  
Chromosome 6Q24 ◽  
History Of ◽  
Transient Neonatal Diabetes ◽  
Neonatal Hyperglycemia ◽  
Methylation Patterns

Abstract Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. We report a female with a history of neonatal hyperglycemia due to a paternally inherited duplication at chromosomal location 6q24. She subsequently presented to the pediatric genetics clinic at 15 months of age with developmental delay and abnormal balance. Microarray analysis identified a larger 14 Mb chromosomal duplication from 6q24 to 6q25.2, consistent with a diagnosis of duplication 6q syndrome. This case highlights the clinical importance of pursuing further genetic evaluation in patients diagnosed with chromosome 6q24-related neonatal hyperglycemia via targeted methylation-specific multiplex ligation-dependent probe amplification analysis identifying a duplication in this region. Early identification and intervention can improve developmental outcomes for patients with larger chromosome 6q duplications.

scholarly journals Transient Neonatal Diabetes Associated with Chromosome 6Q24 Imprinting Abnormalities. Part 2. Epidemiology, Etiology and Pathogenesis

2016 ◽  
Vol 0 (1.69) ◽  
pp. 126
Author(s):  
O.Ye. Abaturov ◽  
O.L. Kryvusha ◽  
V.I. Ivashina ◽  
D.V. Lohvinov ◽  
S.V. Turova
Keyword(s):  
Neonatal Diabetes ◽  
Chromosome 6Q24 ◽  
Transient Neonatal Diabetes

scholarly journals Concurrent Course of Transient Neonatal Diabetes with Cholestasis and Paucity of Interlobular Bile Ducts: A Case Report

2009 ◽  
Vol 12 (5) ◽  
pp. 417-420 ◽  
Author(s):  
Alan P. Kenny ◽  
Nancy A. Crimmins ◽  
Deborah J.G. Mackay ◽  
Robert J. Hopkin ◽  
Kevin E. Bove ◽  
...  
Keyword(s):  
Bile Ducts ◽  
Time Course ◽  
Wide Spectrum ◽  
Uniparental Disomy ◽  
Neonatal Diabetes ◽  
Alagille Syndrome ◽  
Chromosome 6 ◽  
Similar Time ◽  
Transient Neonatal Diabetes ◽  
First Time

We report for the first time a patient with both transient neonatal diabetes mellitus (TNDM) and idiopathic neonatal cholestasis, with both features resolving over a similar time course. Cholestasis was due to paucity of interlobular bile ducts (PILBD). Genetic analysis was consistent with a uniparental disomy of chromosome 6. Paucity of interlobular bile ducts is common in Alagille syndrome but also occurs by unknown mechanisms in a wide spectrum of other diseases. We propose a shared explanation for this patient's TNDM and PILBD mediated by the noted chromosomal abnormality. We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease.

Maternal fertility problems and risk for transient neonatal diabetes mellitus

2017 ◽  
Vol 45 (8) ◽  
pp. 839-845 ◽  
Author(s):  
Marie Hargreave ◽  
Susanne Krüger Kjaer ◽  
Marit Eika Jørgensen ◽  
Allan Jensen
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Elevated Risk ◽  
Neonatal Diabetes Mellitus ◽  
Fertility Treatment ◽  
Parental History ◽  
Transient Neonatal Diabetes Mellitus ◽  
Increased Risk ◽  
Transient Neonatal Diabetes ◽  
Fertility Problems

Aims: The study of imprinting disorders in the context of infertility and its treatment is important, as studies have indicated an increased risk. In this study, we evaluated the risk of transient neonatal diabetes mellitus (TNDM), defined here as diabetes mellitus presenting within the first six weeks of life, in children born to women with fertility problems. Methods: This nationwide register-based cohort study comprised all 2,107,837 children born in Denmark between 1977 and 2010. Of these, 121,044 (5.7%) children were born to women with fertility problems. Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for the association between maternal fertility status and the risk for TNDM. Results: A total of 103 children developed TNDM during the follow-up period. Children born to women with fertility problems had an elevated risk for TNDM, after adjustment for birth year, maternal age at birth and parental history of diabetes, although this was not statistically significant (HR = 1.49; 95% CI 0.73–3.03). The risk of children born in the period 1994–2010 (a period with more comprehensive information on maternal fertility problems and with more invasive fertility treatment procedures) was increased almost twofold (HR = 1.92; 95% CI 0.92–4.00) but was still not statistically significant. Conclusions: Our results indicate that children born to women with fertility problems, particularly after 1993, may be at an elevated risk for TNDM. As the increased risks were not statistically significant, however, the finding may be due to chance.

scholarly journals Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.

1997 ◽  
Vol 34 (2) ◽  
pp. 167-168 ◽  
Author(s):  
M L Whiteford ◽  
A Narendra ◽  
M P White ◽  
A Cooke ◽  
A G Wilkinson ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Neonatal Diabetes ◽  
Chromosome 6 ◽  
Transient Neonatal Diabetes ◽  
Paternal Uniparental Disomy

scholarly journals Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

2021 ◽  
Vol 45 (1) ◽  
Author(s):  
Tajudeen O. Yahaya ◽  
Esther O. Oladele ◽  
Daniel Anyebe ◽  
Chidiebere Obi ◽  
M. D. A. Bunza ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Ring Chromosome ◽  
Chemical Exposure ◽  
Gene Expressions ◽  
Triple X Syndrome ◽  
Increased Risk ◽  
History Of

Abstract Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times. This review was conducted to renew public interest on the chromosomal basis of infertility, testing, and management. Main text Meiotic and post-zygotic mitotic errors may cause infertility-predisposing chromosomal abnormalities, including Klinefelter syndrome, Jacob syndrome, Triple X syndrome, Turner syndrome, and Down syndrome. Chromosomal abnormalities such as deletion, translocation, duplication, inversion, and ring chromosome may also predispose to infertility. Notable features of male chromosomal infertility include spermatogenic failure, characterized by azoospermia, oligospermia, and gonadal dysgenesis, while females include premature ovarian insufficiency, amenorrhea, spontaneous abortion, and gonadal dysgenesis. The risk of these abnormalities is influenced by maternal age and environmental factors such as chemical exposure, smoking, and alcohol consumption. Most chromosomal abnormalities occur spontaneously and are not treatable. However, early prenatal screening and diagnostic tests can lessen the effects of the conditions. There is also a growing belief that certain diets and drugs capable of changing gene expressions can be formulated to neutralize the effects of chromosomal abnormalities. Conclusion Meiotic and mitotic errors during gametogenesis and fetal development, respectively, can cause chromosomal abnormalities, which predispose to infertility. Couples who are at increased risk, particularly those with a family history of infertility and women at an advanced age (≥ 35 years), should seek medical advice before getting pregnant.

scholarly journals A Case of Transient Neonatal Diabetes Mellitus Attributable to a Nonspecific Mutation in the ABCC8 Gene

2021 ◽  
Vol 27 (2) ◽  
pp. 121-124
Author(s):  
Won Seob Shin ◽  
Hwal Rim Jeong ◽  
Ji Won Koh
Keyword(s):  
Diabetes Mellitus ◽  
Early Adulthood ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Clinical Form ◽  
Abcc8 Gene ◽  
Type 2 Dm ◽  
Chromosome 6Q24 ◽  
Transient Neonatal Diabetes

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that persists for more than 2 weeks and requires insulin therapy. NDM principally occurs before 6 months of age. Transient NDM (TNDM) is a clinical form of NDM that persists for a median of 12 weeks and resolves completely by 18 months. However, it may relapse as type 2 DM during early adulthood. The major causes of TNDM are mutations in chromosome 6q24 or the KCNJ11 or ABCC8 genes; the latter encode the two subunits of the pancreatic adenosine triphosphate (ATP)-sensitive potassium channel (KATP-channel). This condition responds well to oral sulfonylurea therapy. Herein, we report a neonate who was small for gestational age and exhibited TNDM symptoms. Genetic analysis revealed a nonspecific mutation in ABCC8; he was successfully treated with oral sulfonylurea.

scholarly journals Unexplained Syncope: The Importance of the Electrophysiology Study

Hearts ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 495-505
Author(s):  
Ioannis Doundoulakis ◽  
Stergios Soulaidopoulos ◽  
Petros Arsenos ◽  
Polychronis Dilaveris ◽  
Dimitris Tsiachris ◽  
...  
Keyword(s):  
Heart Disease ◽  
Clinical Importance ◽  
Electrophysiology Study ◽  
Responsible Mechanism ◽  
Increased Risk ◽  
Inclusive Approach ◽  
Acquired Heart Disease ◽  
Life Threatening ◽  
History Of ◽  
Unexplained Syncope

Syncope of cardiac origin may be associated with an increased risk of sudden cardiac death if not treated in a timely and appropriate manner. The diagnostic approach of syncope imposes a significant economic burden on society. The investigation and elucidation of the pathogenetic mechanism of syncope are of great clinical importance, as both prognosis and appropriate therapeutic approaches depend on these factors. The responsible mechanism of presyncope or syncope can only be revealed through the patient history, baseline clinical examination and electrocardiogram. The percentage of patients who are diagnosed with these tests alone exceeds 50%. In patients with a history of organic or acquired heart disease or/and the presence of abnormal findings on the electrocardiogram, a further diagnostic electrophysiology inclusive approach should be followed to exclude life threatening arrhythmiological mechanism. However, if the patient does not suffer from underlying heart disease and does not show abnormal electrocardiographic findings in the electrocardiogram, then the probability in the electrophysiology study to find a responsible cause is small but not absent. The role of a two-step electrophysiology study inclusive risk stratification approach for the effective management of the former is thoroughly discussed in this review.

scholarly journals Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Anna Delamerced ◽  
Lauren J. Massingham ◽  
Jose Bernardo Quintos
Keyword(s):  
Diabetes Mellitus ◽  
Cell Function ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
First Year ◽  
Dental Disease ◽  
Transient Neonatal Diabetes Mellitus ◽  
Chromosome 6Q24 ◽  
Β Cell Function ◽  
Transient Neonatal Diabetes

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that presents in infancy and is characterized by intrauterine growth restriction and hyperglycemia without ketones on urinalysis. Patients are treated with insulin until remission, usually within the first year. Relapse to a permanent state may occur later in life, with a mean age of 14 years. The most common cause of TNDM is a chromosome 6q24 mutation that affects pancreatic β-cell function. Reports of relapse have been limited. We describe a case of an adolescent female with TNDM due to 6q24 hypomethylation who relapsed at 15 years of age with severe dental disease as the presenting sign.

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